tubular aggregate myopathy 2 Disease Ontology Browser

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Disease Ontology Browser

tubular aggregate myopathy 2 (DOID:0080686)
Alliance: disease page
Alt IDs: OMIM:615883
Definition: A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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